芜湖地区109例听障儿童及家属耳聋基因突变检测结果分析

摘要

Objective To investigate the deafness genes mutations in nonsyndromic deafness children and their families and to explore the common deafness genes in hearing-impaired children in Wuhu. Methods Thirty-seven nonsyndromic deafness children and their families from the Wuhu Second People's Hospital were selected to complete the questionnaire, otology specialized examination, audiological assessment and imaging examination. A total of 109 children and their families were tested 9 mutation sites in four deafness-associated genes including GJB2, GJB3, SLC26A4 and mtDNA by using microarray. Results Among 37 children with nonsyndromic deafness, the total mutation rate is 62.16％. Fifteen cases are GJB2gene mutation (40.54％) , including 235delC homozygous mutation in 6 cases, 235delC singel heterozygous mutation in 4 cases; 299del AT heterozygous mutation in 1 cases, 235delC and 299del AT compound heterozygous mutation in 3 cases, 176del16 and 235delC compound heterozygous mutation in 1 cases. Seven cases are SLC26A4 gene mutation (18.92％), including IVS7-2 homozygous mutation in 2 cases and singel heterozygous mutation in 5 cases. One cases is mtDNA1555A>Gmutation (2.70％). All the parents of children with GJB2 or SLC26A4 gene mutation were detected related gene mutation. Conclusion GJB2, SLC26A4 and mtDNA gene mutation are common causes of deafness in children in Wuhu area, especially the GJB2 gene 235delC site mutation. GJB2 and SLC26A4 genes are related to genetic correlation.%目的 应用基因芯片对先天性耳聋儿童及其家属行耳聋基因检测,了解芜湖地区耳聋儿童常见的致聋基因.方法选取来自芜湖市第二人民医院的37例非综合征型耳聋儿童及其家属(共109例),行耳聋高危因素问卷调查、耳鼻咽喉科专科检查、听力学评估及影像学检查,应用基因芯片对109例受检者行GJB2、GJB3、SLC26A4、mtDNA 4个常见基因9个热点突变点位的检测.结果37例受检儿童,23例检测出基因突变,阳性率为62.16％,其中15例GJB2基因突变(40.54％)(235delC纯合突变6例、杂合突变4例;299del AT杂合突变1例;235delC和299del AT复合杂合突变3例;176del16和235delC复合杂合突变1例);7例SLC26A4基因突变(18.92％)(IVS7-2纯和合突变2例、杂合突变5例);1例mtDNA基因突变(2.70％)(1555A>G均质突变).检出GJB2或/和SLC26A4突变的聋儿,其父母均检测出相应的基因突变.结论芜湖地区耳聋儿童常见的致聋基因是GJB2、SLC26A4、mtDNA,最常见的是GJB2基因235delC点位突变,GJB2及SLC26A4基因与遗传高度相关.